Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation
Jiang X, Yang C, Wang Z, Liang L, Gong Z, Huang S, Xu Z, Zhang B, Pei X, Cai L, Wang H, Lin Z. Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. British Journal Of Dermatology 2024, 191: 107-116. PMID: 38489583, DOI: 10.1093/bjd/ljae108.Peer-Reviewed Original ResearchConceptsLoss-of-function variantsMNT-1 cellsMinigene assaySkin hyperpigmentationGlomuvenous malformationsSkin lesionsUpregulation of microphthalmia-associated transcription factorSmall interfering RNA assaysMicrophthalmia-associated transcription factorDonor splice siteGeneralized skin hyperpigmentationWhole-exome sequencingProportion of stage IIIPhosphorylated p70S6KHyperpigmented skin disordersHyperpigmented skin lesionsSplice siteSplicing alterationsGenetic basisGenetic heterogeneityTranscription factorsSanger sequencingUnrelated familiesPremelanosome proteinSkin melanogenesis
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply